Article
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
Brain : a journal of neurology - 1 Apr 2005
Sáenz A, Leturcq F, Cobo A M, Poza J J, Ferrer X, Otaegui D, Camaño P, Urtasun M, Vílchez J, Gutiérrez-Rivas E, Emparanza J, Merlini L, Paisán C, Goicoechea M, Blázquez L, Eymard B, Lochmuller H, Walter M, Bonnemann C, Figarella-Branger D, Kaplan J C, Urtizberea J A, Martí-Massó J F, López de Munain A
Abstract excerpt
We present here the clinical, molecular and biochemical findings from 238 limb-girdle muscular dystrophy type 2A (LGMD2A) patients, representing approximately 50% (238 out of 484) of the suspected calpainopathy cases referred for the molecular study of the calpain 3 (CAPN3) gene. The mean age at onset of LGMD2A patients was approximately 14 years, and the first symptoms occurred between 6 and 18 years of age in...
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